Zobrazeno 1 - 10
of 180
pro vyhledávání: '"J. M. Friedman"'
Publikováno v:
Journal of Genetic Counseling. 31:887-900
Genome-wide (exome or genome) sequencing (GWS) has the potential to detect incidental findings (IFs): variants unrelated to the primary indication for testing that may be of medical or personal utility. As GWS becomes increasingly common in clinical
Autor:
J. M. Friedman
Publikováno v:
Clinical Genetics. 18:34-41
An hypothesis is presented to account for the occurrence of overlapping patterns of anomalies in various malformation syndromes. According to this proposal, normal human morphogenesis occurs by means of a series of sequential commitments by neighbori
Autor:
J. M. Friedman
Publikováno v:
Clinical Genetics. 28:343-347
Characteristic abnormalities of the umbilicus have been noted in children with Aarskog syndrome, Reiger syndrome, and Robinow syndrome. These observations indicate that specific umbilical configurations may be characteristic features of some malforma
Publikováno v:
Clinical genetics. 89(3)
Microdeletions of the entire NF1 gene and surrounding genomic region occur in about 5% of patients with neurofibromatosis 1 (NF1). NF1 microdeletion patients usually have more cutaneous and plexiform neurofibromas and a higher risk of developing mali
Autor:
W Y Lo, J M Friedman
Publikováno v:
Obstetrics & Gynecology. 100:465-473
OBJECTIVE: To determine how long it takes after a new drug is marketed to establish whether or not its use by pregnant women is likely to pose a substantial teratogenic risk. METHODS: We used standard clinical teratology resources to assess the terat
Publikováno v:
Biochemistry. 39:837-842
We report an unusually high frequency (543 cm(-)(1)) for an Fe-CO stretching mode in the CO complex of Ascaris suum hemoglobin as compared to vertebrate hemoglobins in which the frequency of the Fe-CO mode is much lower. A second Fe-CO stretching mod
Autor:
M. C. Simpson, Mark R. Ondrias, Christopher M. Cheatum, E. S. Peterson, D. D. Eads, J. M. Friedman, Colman Shannon
Publikováno v:
Journal of the American Chemical Society. 119:5110-5117
Transient resonance Raman spectroscopy has been used to probe the vibrational dynamics of the heme active site of deoxyhemoglobin during photoexcitation. Near UV pulses of approximately 35 ps in duration were used to both excite the sample and genera
Autor:
Vicki L. Dellarco, Terry J. Hassold, Jack B. Bishop, Lynnette R. Ferguson, J. M. Friedman, Andrew J. Wyrobek
Publikováno v:
Environmental and Molecular Mutagenesis. 28:159-166
A 2 1/2-day workshop on germ cell aneuploidy was convened September 11-13, 1995 at the National Institute of Environmental Health Sciences in Research Triangle Park, North Carolina to discuss current understandings of the etiology and origin of human